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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Progeroid Facial Appearance with Hand Anomalies
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Accession:DOID:9008171 term browser browse the term
Synonyms:primary_id: MESH:C566563;   RDO:0014883
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      progeria 17
        Progeroid Facial Appearance with Hand Anomalies 0
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Musculoskeletal Abnormalities 1755
            Congenital Limb Deformities 503
              Congenital Upper Extremity Deformities 87
                Congenital Hand Deformities 71
                  Progeroid Facial Appearance with Hand Anomalies 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.